Researchers from The Ohio State University, Nationwide Children's Hospital and the University of Bern in Switzerland found that protein replacement gene therapy...
A group from the Department of Biomedical Sciences at Iowa State University is taking a step-by-step approach to solving SMA by restoring SMN expression through correcting the SMN2 exon 7 splicing error. From discovering a promising therapeutic target to taking that target to phase 3 clinical trials, the group is making great strides in developing SMA treatments and understanding the mechanisms of action behind treatment.
The group’s therapy is targeted for intronic splicing silencer N1 (ISS-N1). The molecule, which provides the basis for ISIS Pharmaceutical’s antisense drug ISIS-SMNRx, was found after the team conducted an in vivo selection of the entire exon 7. Their goal was to probe the importance of every gene residue in exon 7, discovering that the very last residue was extremely important. “The results of in vivo selection brought a new perspective to the field (of exon 7-splicing regulation) by demonstrating an intrinsic problem with [a different part of the exon than is usually studied],” wrote the team in “Splicing Regulation in Spinal Muscular Atrophy by an RNA Structure Formed by Long-Distance Interactions,” published in Annals of the New York Academy of Sciences.
The team then developed an antisense oligonucleotide-mediated approach to correct exon 7 splicing errors. While determining the mechanisms of action, the researchers discovered ISS-N1 interacts through internal stem through long-distance interaction-1 (ISTL1) with the middle of intron 7, part of an inhibitory region known as ISS-N2.
After conducting more experiments, the authors stated, “We demonstrate that an antisense oligonucleotide-mediated sequestration of ISS-N2 fully corrects SN2 exon 7 splicing and restores high levels of SMN in SMA patient cells. These results underscore the therapeutic potential of the regulatory information present in a secondary and high-order RNA structure of a human intron.”
what are they waiting for ?patients to get weaker?
A researcher at the University of Missouri has developed a new compound found to be ...
Email from SMA Foundation Below:
ISIS PHARMACEUTICALS REPORTS DATA FROM ISIS-SMNRX PHASE 2 STUDIES IN INFANTS AND CHILDREN WITH SPINAL MUSCULAR ATROPHY
Phase 3 ENDEAR study in infants with SMA enrolling; on track to initiate Phase 3 study in children ...
According to recent studies, approximately one out of every 40 individuals in the United States is a carrier of the gene responsible for spinal muscular atrophy (SMA), a neurodegenerative disease that causes muscles to weaken over time. Now, researchers at ...
Spinal Muscular Atrophy Mice Model Results Published in the Journal Science.
August 7, 2014.
Today the journal Science published results of a preclinical study demonstrating that treatment with orally available RNA splicing modifiers of the SMN2 gene star...
Source: Stem cell scientists develop more effective way to create motor neurons Stem cell scientists develop more effective way to create motor neurons
by Mirabai Vogt-James
Stem cell scientists develop more effective way to create motor neurons
Frey’s team used computational deep learning techniques to train a system that mimics the process of splicing in the cell (left panel). Features such as motifs, RNA secondary...
ELK GROVE VILLAGE, Ill., Nov. 5, 2014 /PRNewswire-USNewswire/ -- A manuscript from the laboratory of Dr. Brian Kaspar of Nationwide ...
Dallas, TX, October 04, 2014 --(PR.com)-- AveXis Inc., a synthetic biology platform company primarily focused on developing treatments for Spinal Muscular Atrophy (SMA) today announced that the U.S. Food and Drug Administration (FDA) has granted orphan drug...
Orally delivered compounds, which selectively modify RNA splicing, prevent deficits in mouse models of Spinal Muscular Atrophy
Results published in Science show small molecule SMN2 splicing modifiers to be effective in SMA mouse models
Today the journa...
Update from Dr. Lorson at University of Missouri on Spinal Muscular Atrophy Program being Funded by Families of SMA
August 6, 2014
Christian Lorson PhD, investigator in the Bond Life Sciences Center and Professor of Veterinary Pathobiology at the Universi...
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